National Registry for Ichthyosis and Related Disorders

The National Registry for Ichthyosis & Related Disorders ceased operation after 2012

The National Registry for Ichthyosis & Related Disorders (the Registry) was originally funded by the NIH, beginning in 1994. The NIH funding stopped in 2004. At that time, enrollment also stopped and the Registry continued only on a maintenance basis. FIRST funded maintenance of the Registry over recent years and has now determined that research is now being conducted effectively in other ways. Investigators who wish to utilize the Registry until it ceases operations should contact the principal investigator via the Registry website, www.skinregistry.org.

The Ichthyosis Registry was funded by the National Institutes of Health (NIH) from 1994 through 2005 to enroll people with ichthyosis, to characterize their specific type of ichthyosis using defined descriptions, and to collect information about enrollees in order to advance understanding of the diagnosis, causes, and treatment of the disorders. Funding by the NIH occurred as a result of lobbying by members of FIRST. The application for funding was a collaborative effort by the members of the Medical and Scientific Advisory Board of FIRST.

Enrollment was a time-consuming process (those of you who participated can testify!) The process involved paperwork by enrollees and the physicians who cared for them, along with a detailed interview by the Registry Coordinator, Geoff Hamill. Geoff and Kim Pineda, the Registry secretary, established warm friendships with many of the enrollees during this long process. Geoff is now working is a Registered Nurse on the Seattle Cancer Care Alliance floor at the University of Washington Medical Center, and Kim is enrolled in a PhD program in musicology at the University of Oregon while he continues to run a concert series in Seattle, the Baroque Northwest ensemble.

The Registry stopped enrolling individuals when NIH funding ended in 2005. The NIH funded the Registry to enroll and describe affected people, but the goal for enrollment was to end up with a large group of well-characterized individuals with ichthyosis who were interested in contributing to knowledge about their disorders. Six-hundred ten people endured this demanding process, resulting in the best set of information about a large group of people with ichthyosis around. At that time we entered into the maintenance phase, taking advantage of the hard work and expense of the enrollment process. What have we done with this valuable resource? Since its formation, the Registry has supported 18 different studies resulting in 21 publications. You can see a list of these on the Registry website. You can see from the chart of the studies shown below that the number of studies supported has increased as more people were enrolled and investigators have become aware of this resource. Another reason for increased use of the Registry is the research grants that FIRST has begun to fund.

Many of those enrolled ask why there are no studies on "their disease." Studies of rare disorders can be arbitrarily divided into:

those where detailed examination of specific question occurs, for example, "What gene is mutated in Darier Disease?" and

studies of a larger group of individuals with a disorder, for example, "Can one predict how severely a person with Darier Disease will be affected based on the specific mutation that person has?"

The first type of study is often very difficult and focuses on a few affected individuals, so most investigators restrict their studies to individuals whom they know and have taken care of personally. The Registry is much better suited for the latter type of study. For example, the recent studies of those people in the Registry with transglutaminase 1 mutations by Dr. Jorge Toro and his group have resulted in better understanding of the "lamellar" presentation of ARCI.

Thanks to the support of FIRST and several other sources, the Registry has successfully pursued the goals of better understanding of the ichthyoses. As long as we continue to provide a resource for investigators, we will persevere. Thank you to all of those who have enrolled and who respond to our annual mailing. If you have been "lost," please contact us by phone, email or snail mail to re-establish contact. We value your participation.

If you missed the opportunity for enrollment, it is our loss; we regret that we are unable to enroll new participants.